ClinVar Miner

Submissions for variant NM_001195305.3(BBIP1):c.168A>G (p.Leu56=)

gnomAD frequency: 0.00006  dbSNP: rs990110859
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490300 SCV001694861 likely benign not provided 2024-03-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476796 SCV002802570 likely benign Bardet-Biedl syndrome 18 2022-04-22 criteria provided, single submitter clinical testing

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